RUSP

Secretary Kennedy Adds MLD to Nationwide Newborn Screening

It took me a moment to come down from the momentum, adrenaline, shock, relief, celebration and joy that came from the last month of 2025. The hopes/wishes I expressed in my last post turned into a reality. On Tuesday, December 16, 2025, Secretary Robert F. Kennedy Jr. added both MLD (Metachromatic Leukodystrophy) and DMD (Duchenne Muscular Dystrophy) to the RUSP (Recommended Uniform Screening Panel) – AKA the foot prick blood test that every baby gets after they’re born.

And it happened much sooner than I expected.

Following our most recent visit to D.C. in the beginning of December (where Keira and I had a meeting at the White House and spoke on a panel at a Congressional Briefing), just a few days later we were invited back for an intimate meeting with Secretary Kennedy. Little did we know, this meeting ended up being a ceremony that was live-streamed and one hour before it started I was told that they would like me to say a few words.

As we walked into the “meeting” room in the Hubert H. Humphrey Building on Independence Avenue, we were surprised to see a U-shaped seating panel in front of many flags with two TV screens on either side. A giant camera was in the middle to live-stream the occurrence and behind it were rows of seats. We assumed these rows were for us, the MLD families in attendance. A few seats had names on them but none for us. As we settled in, Dave turned to me and said “I think your seat is actually up there…” pointing to the U-shaped panel. Shockingly, he was right, it was Secretary Kennedy seated next to his Chief of Staff Dr. Stephanie Haridopolos and to her left was myself, followed by two other parents. To the Secretary’s right were a number of Governors who had supported the reason we were all there that day: to add these two rare diseases who have known curative treatments to nationwide newborn screening.

I didn’t know until that morning what exactly was going to happen at this meeting. And I was in tears when we found out. It was hard not to tear up again as it came time for me to speak, but thankfully I held it together and kept my remarks short and sweet. As I mentioned in my remarks, it was an extremely bittersweet moment with Dave, myself, Eva and Keira in attendance while Livvy was at home with her Grandma, unable to walk, talk or benefit from the treatment her sister received 5 years ago.

But thanks to Secretary Kennedy, his team at HHS, the Governor’s in attendance, as well as those who helped support these efforts along the way – including AZ Congressman David Schweikert and Representative Greg Stanton – soon, no other family will have to live through what we have: losing one child in order to save another.

It truly is a miracle that just over 5 years had gone by since the girls were diagnosed, and in that time the treatment Keira received became FDA approved and now it’s been added to recommended newborn screening panels for the United States. The many families before us have truly paved the way, and worked for decades to get to this point. I sincerely hope the speed with which the treatment became FDA approved and the time until screening is recommended continues to lessen. For MLD alone, one baby is born with it each week. So the longer we wait to implement newborn screening, the more babies will face the same fate as our daughter Livvy (an average lifespan of 6 years old).

And while this addition is a monumental step forward for families like ours, our work isn’t done. Now, the 15 states that are RUSP-aligned (AZ among them), have to actually set up their labs to include the test for MLD. Which can take up for 18-24 months.

Since we returned from D.C. on December 17th, I’ve already emailed both Congressman Schweikert and Representative Stanton’s office, sharing Secretary Kennedy’s actions to include MLD and DMD, along with why it’s so important to implement testing sooner rather than later. I hope that the state of Arizona and its newborn screening department realize the gravity of this situation and how many lives they will save by acting swiftly.

See the full live stream of the ceremony here:

See below for a post from HHS from this meeting, that includes a group photo along with a shot of Secretary Kennedy giving Keira one of his challenge coins.

And below is an article from our local newspaper, the Ahwatukee Foothills News, recapping our family’s journey to this point.

MLD Newborn Screening Has Halted…

On May 8-9, 2025, Metachromatic Leukodystrophy (MLD) was to be voted upon as a disease to add to nationwide newborn screening panels (the foot prick every baby gets after birth to ensure they do not have a variety of rare diseases). With this in place, any baby diagnosed with MLD at birth would be able to receive the same gene therapy treatment as Keira – a treatment that is now FDA approved and available in Minnesota.

But as of eight days ago, that is no longer the case. Now, families will have to hear this diagnosis just like we did with Livvy – when symptoms occur. When it is too late to receive this life-saving gene therapy treatment. These children and their families will be faced with this crushing diagnosis and an estimated average life span of age 6.

To say it has been a devastating few weeks for the MLD community is an understatement.

So why did this happen? After the expansive cuts across federal health agencies like the Department of Health & Human Services, with it came the termination of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), the committee responsible for deciding which diseases go on the Recommended Uniform Screening Panel or RUSP.

This committee was solely responsible for adding new conditions – that have actual treatments that work – in order to prevent outcomes like what we will see with Livvy. The next diseases to be added were metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD). Now, both hang in the balance…with no redirection and no hope. We are back at square one: where families will continue to lose one child in order to save another, as we will with Livvy and Keira.

The MLD community is now rallying (again, after a decade+ of work to get to this point) to speak with legislators about this devastating loss and figure out a way to ensure this will be on newborn screening, to ensure these babies get treated before it’s too late and to ensure we save hundreds of more lives each year.

I’ll continue to keep you updated as we hear more. In the meantime, you can help by contacting your Congressional representative and asking them to reinstate this committee immediately (feel free to share this blog post). And you can read more on the devastating effects of this change in The Boston Globe, TIME Magazine and Med Page Today.